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Title: Gene polymorphisms and risk of melanoma development
Legend: Much progress has been made in recent years in the understanding of high penetrance susceptibility to melanoma. Three causal genes have been identified: CDKN2A (p16 INK4a), CDK4, and CDKN2A (p14 ARF), and linkage evidence of a fourth gene at 1p22 has been reported more recently. However, mutations in these genes account for only a very small proportion of all melanoma cases and are generally found in cases of familial melanoma. Low-penetrance genes are believed to account for a much larger percentage of melanoma susceptibility in the general population. However, much less progress has been made in the identification of such genes. Only one common low-penetrance gene has been identified, that is MC1R: polymorphic variants of this gene play a major role in determining hair color, freckles, susceptibility to sunburn, and melanoma. For the polymorphisms of other genes the evidence is more controversial, as illustrated in this database (only cases vs controls analysis [but not subgroup analysis] are considered; if available, results corrected by known melanoma risk factors are reported). Familial cases are pointed out. RHC: red hair color; NRHC: non RHC. REFERENCES: [1] Berwick M, Front Biosci 2006, 11:1244-54. [2] Newton Bishop JA, Drugs Today 2005, 41:193-203. [3] Hayward NK, Oncogene 2003, 22:3053-62. [4] Lin J, Br J Dermatol 2008, 159:286-91. [5] Lomas J, Front Biosci 2008, 13:5071-93. Figure #32
Author: Daunia Verdi, MD (updated: September 2010)

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